Townes-Brocks syndrome

Townes-Brocks syndrome is a rare genetic disease described in roughly 200 cases in the published literature, affecting males and females equally. It was first identified in 1972 by Philip L. Townes, then a human geneticist and professor of pediatrics, and Eric Brocks, then a medical student, both at the University of Rochester. Features present before birth can include abnormalities of the external ears, with or without hearing loss, anorectal malformations, kidney abnormalities, heart defects such as tetralogy of Fallot, and hand and foot abnormalities such as hypoplastic or fingerlike thumbs and syndactyly. Some children have learning difficulties while others have normal intelligence. It is autosomal dominant and involves a mutation of the SALL1 gene, and many people live a normal lifespan although some symptoms can be life-threatening.